Down Syndrome 101

Piper and Trig (Photo courtesy of the RNC)

One of the most memorable images of the 2008 presidential campaign so far is that of 7-year-old Piper Palin using her own spit and tiny fingers to smooth her baby brother's hair as he slept in her lap while their mother, vice-presidential nominee Gov. Sarah Palin, spoke to the Republican National Convention Wednesday night.

All politics aside, it was a charming moment, made all the more poignant by the widespread knowledge that baby Trig Paxson Van Palin, born in April, has Down syndrome.

Trig's appearance on the national scene is certain to draw attention to Down syndrome. He certainly piqued my interest in the condition, which is one that I kinda sorta thought I knew about. But, when it came down to brass tacks, I didn't know as much as I thought.

The National Down Syndrome Society (NDSS) was prepared for the likes of me, though, having issued early this week a document advising the media as to the preferred wording to use when discussing Down syndrome. A related document rebuts myths surrounding the condition.

I was off to a good start: I already knew that it's Down, not Down's syndrome, and that it's a syndrome, not a disease. After that, though, I learned a lot.

Here's a quick rundown on Down, from the NDSS:

* Down syndrome occurs when an individual has three, rather than two, copies of the 21st chromosome. This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. . .

* . . . which include low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm.

* Down syndrome is the most commonly occurring genetic condition. One in every 733 live births is a child with Down syndrome, representing approximately 5,000 births per year in the United States. More than 400,000 people in the U.S. have Down syndrome.

* Life expectancy for individuals with Down syndrome has increased dramatically in recent years, from just 25 years in 1983 to 56 years today. That's due in large part to the fact that many diseases and conditions for which people with Down syndrome are at increased risk, including congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia, and thyroid conditions, are increasingly treatable.

* About 80 percent of children with Down syndrome are born to women younger than 35, simply because younger women have more children. However, the likelihood of bearing a child with Down syndrome increases with the age of the mother.

* Most people with Down syndrome have IQs that fall in the mild to moderate range of intellectual disability.

I talked with Brian Skotko, a member of the NDSS board of directors and a physician with Children's Hospital Boston -- and a sibling of a woman with Down syndrome -- to address a few questions of my own.

For instance, I wondered whether the incidence of Down syndrome is on the rise. Skotko says there's no telling from the official government figure cited above because it represents the first time that the U.S. Centers for Disease Control has actually counted. However, he says, research published in the American Journal of Obstetrics and Gynecology in 2004 showed a decrease in the number of cases of Down syndrome of about 7.8 percent between 1989 and 2001. "The implication," he says, "is that most can be attributed to the use of prenatal screening." And, by further implication, the termination of some of those pregnancies.

One of the myths the NDSS dispels is that people with Down syndrome are always happy. Of course, that's not the case: As the sheet says, "People with Down syndrome have feelings just like everyone else in the population. They experience the full range of emotions. They respond to positive expressions of friendship and they are hurt and upset by inconsiderate behavior." So where did that misconception come from?

"The real truth" Skotko says, "is that people with Down syndrome bring a lot of joy, a lot of passion to life. At the same time, they share all the other emotions we all experience." What others may perceive as full-time happiness, he says, might better be described as a kind of perseverance and forgiveness and an ability "to teach us to appreciate that richness that sometimes is nestled in small places."

The NDSS notes that researchers are working toward identifying the genes on chromosome 21 that cause the characteristics of Down syndrome. Scientists now feel strongly that someday it will be possible to improve, correct or prevent many of the problems associated with Down syndrome. Since I have often heard people say of their loved ones with Down syndrome that they've provided so much joy and insight, they wouldn't change a thing about them, I wondered whether such research was even all that welcome.

Skotko couldn't answer exactly that, but he did say that, in his experience talking to mothers of people with Down syndrome, most reported feeling shock, sadness, anger, disbelief and other negative feelings when they learned that their child would have Down syndrome. But later in life, he reports, those mothers say their children with Down syndrome have served as "life coaches, teaching us invaluable lessons."

I think there are no good stats on the rate. I have heard one study from California that said 58%, and another that said 90%. It should also be noted that some choose to terminate because of the severe medical complications, not the Down Syndrome diagnosis itself.

I've known a fine young man with Down Syndrome and his wonderful parents since 1986. I know only a fraction of the pain, worry and "treatable" conditions (try dozens of operations and procedures in his case).

It is not a walk in the park, raising a child with Down Syndrome, but many people rise to the challenge. I cannot pass judgement on anyone who acts upon a pre-natal screening. You know, walk a mile in the shoes of a Down Syndrome parent before you start that game.

There have been no public health measures, laws, initiatives or even speeches from any Republicans I've ever seen in regards to Down Syndrome. Not many from Democrats either, but I believe they have a better record on helping the disabled--simply because they are willing to use tax money for this. As a matter of fact, I believe the Republican position on these health issues goes like this: "You're on you're own."

I wish the Palins nothing but the best for their family's health and children. But I wonder how they would feel about these health issues if they couldn't afford to pay for the extra care---and "treatable" conditions that often go along with Down Syndrome?

"Is is true that 9 out of 10 mothers whose fetuses are diagnosed with Down Syndrome abort those fetuses? That sounds extremely high to me. Anybody know whether it's true?"

The data for this information comes from a 1999 meta-analysis of rates in different countries. It only concerns those who choose to have the tests, and since it is from 1999, the tests available at the time were invasive, and thus used by only a subset of pregnant mothers.
Caroline Mansfield, Suellen Hopfer, Theresa M. Marteau (1999).

Prenatal testing for Down Syndrome is less invasive now, and more pregnant mothers undergo it. I do not believe there has been a subsequent study on the number of terminations following detection, after the introduction of less invasive tests.

"Scientists now feel strongly that someday it will be possible to improve, correct or prevent many of the problems associated with Down syndrome."

I believe this is an accurate statement for many of the physical disabilities, including leukemia and congenital heart defect (though probably not low muscle tone, which is neurological). But, scientists have no significant advances on how to treat the cognitive deficits or the alzheimers that develops in middle age among many people with Down Syndrome.

I have a five-year-old child with Down syndrome and I knew the diagnosis before his birth. He's a great kid, very charming and very much loved. He is not much more work than any other kid, because he doesn't have any significant health issues. He does have a really pronounced speech delay and I'd be behind any research that could improve speech. But I'd be hard put to say that I'd want him different other than him being able to talk to me more.

I had an unexpected pregnancy in my 20s, considered but cancelled an abortion, gave birth to a profoundly retarded child (not Down), married the father and had 2 more kids. I was almost 40 when I had my last child and did not have pre-natal screening because I realized I would not abort a Down baby (I am pro-choice by the way). So I have seen this from a lot of angles. My handicapped daughter indeed taught me a great deal and we love her dearly. But would I prefer that she had not been handicapped? I have to say yes.

The stress of having a handicapped child is exacerbated by all the financial and medical problems that get added on, many of which people don't even think about. (Do you realize it's almost impossible to find an after-school program for instance? And it can take up an awful lot of time feeding, bathing, dressing and changing diapers for someone for 20 years!) My husband and I have stayed together, but very often marriages collapse under the stress. Social services are underfunded and sometimes verge on the hostile. Schools are more like your enemy than your friend sometimes.

My older sister is a Down Syndrome child - born in 1954, I have incredible respect for my parents for raising her near our family at all times - during the '50's many parents were advised to simply put the child away and in essence, forget that he/she existed - Cindy is severly disabled, and will never be able to fend for herself, but has always been full of love and provided love and joy for our extended family.

Raising a Down child is different for each child, depending on the severity of the syndrome. Many children are able to function in society, many are not.

The Palin's do have extra work ahead of them, both in tending to this child as well as insuring that their family understands how to react and help raise him.

That being said, I find that I am more than a little uncomfortable with the showcase that they have made of this child. Maybe it's just my personality, but I just feel like you deal with the cards that are dealt you and you don't make a big deal out of it. All this publicity, while good for the cause of Down Syndrome sufferers, kind of creeps me out.

With respect to Trig, the Palins are damned if they do, damned if they don't. They chose to include him with their other children when the children are on stage, and they got criticized for using him as a stage prop. But if they had left him out, no doubt they would get criticized for discrminating against their Down syndrome child and people would accuse them of being ashamed of him. Like I said, they will criticized each way.

Personally, I was glad that they included him, and he seemed to be quite content and not upset by the noise or lights.

Patricia E. Bauer has written a very good, clear explanation of the preferred language to use when talking about people who have Down Syndrome. http://www.patriciaebauer.com/2008/08/29/a-note-about-language/ The blog PatriciaEBauer.com is concerned with coverage of disability issues in the media. Needless to say, this week it has had extensive postings on Sarah Palin and Down Syndrome. Worth a look

Thanks for all the fascinating and thoughtful comments this Friday afternoon!

To Sharon: math isn't my strong suit, but I do see your point. My numbers are straight from the NDSS fact sheet:

Myth: Down syndrome is a rare genetic disorder.
Truth: Down syndrome is the most commonly occurring genetic condition. One in every 733 live births is a child with Down syndrome, representing approximately 5,000 births per year in the United States alone. Today, more than 400,000 people in the United States have Down syndrome.

I will try to get ahold of someone at NDSS to straighten this out. Thanks!

Why? Because Down syndrome is such a "tragedy"? If we lined up all the kids with Down syndrome in America and asked them how old their mom was when they were born, over half would say under 35 years old.

I can relate to Sarah Palin. My own mother struggled with the decision of whether to abort or not, when pregnant at the age or 42. She got all the way to the abortion clinic and changed her mind. My sister born 21 years younger than I and was just fine.
I also had an amniocentesis because of my age for my third child. I was given the choice at 14 weeks of whether I would want to continue the pregnancy or not, if the tests were positive for Down's or Spinal problems. Thankfully, I never had to make the choice, as I had a sister die of CF.

I have always been pro-choice, but it's a VERY difficult choice to make, when faced with that decision.
I fault no one for what ever choice they make. It's a very private and personal one to make.

"Scientists now feel strongly that someday it will be possible to improve, correct or prevent many of the problems associated with Down syndrome. Since I have often heard people say of their loved ones with Down syndrome that they've provided so much joy and insight, they wouldn't change a thing about them, I wondered whether such research was even all that welcome."

How incredibly patronizing it would be for those without the condition to make that decision - that such research is not needed - for those who do.

And why should those who have Down syndrome be content with merely providing "joy and insight" to those without their condition? Maybe they'd like to be more than just "life coaches" for others. Maybe, just maybe, they would like to be able to live a life with less pain and more opportunities for personal development, and not just as an inspirational mascot to make others feel better about themselves.